×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.
27682711
2016
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
CausalMutation
disease
CLINVAR
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.
24401662
2014
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18) F DOPA-PET/CT scanning.
24750227
2014
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
CausalMutation
disease
CLINVAR
Congenital hyperinsulinism.
25323548
2014
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.
25117148
2014
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
25201519
2014
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.
23067144
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
23345197
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.
23652837
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
CausalMutation
disease
CLINVAR
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
23275527
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
23275527
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
CausalMutation
disease
CLINVAR
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
23345197
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel.
22855730
2012
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening.
22802590
2012
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.
21378087
2011
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
CausalMutation
disease
CLINVAR
Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.
20943781
2011
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Familial focal congenital hyperinsulinism.
20943779
2011
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy.
21411514
2011
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
21422196
2011
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
20685672
2010
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
20799350
2010
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
CausalMutation
disease
CLINVAR
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
20685672
2010
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
19475716
2009
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
18767144
2009
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.400
GeneticVariation
disease
CLINVAR
Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism.
18073294
2008